Research areas
Brief description using keywords of the current lines of
investigation:
Enteric Nervous system alterations.
Hirschsprung's disease as a model for polygenic diseases
and Intestinal Neuronal Dysplasia.
Keywords: Hirschsprung's disease, RET proto-oncogene,
susceptibility factors, complex model of disease, "HSCR Haplotype",
susceptibility loci, intestinal neuronal dysplasia.
Thyroid cancer
Keywords: Multiple Endocrine Neoplasia type 2, medullary thyroid
cancer, papillary thyroid cancer, sporadic tumors; germinal
mutations at RET; modifier factors; molecular and functional
characterization.
Genetic Mental Retardation syndromes
Keywords: Mental retardation, cryptic chromosomal anomalies, MLPA,
molecular karyotyping, microarrays, SNPs
Spinal Muscular Atrophy
Keywords: SMA; SMN1; SMN2; genotype-phenotype correlation.
Luzon-Toro, B; Villalba-Benito, L; Torroglosa, A; Fernandez, RM; Antinolo, G; Borrego, S
What is new about the genetic background of Hirschsprung disease?
CLINICAL GENETICS
Gonzalez-del Pozo, M; Fernandez-Suarez, E; Martin-Sanchez, M; Bravo-Gil, N; Mendez-Vidal, C; Rodriguez-de La Rua, E; Borrego, S; Antinolo, G
Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants
JOURNAL OF TRANSLATIONAL MEDICINE
Mederer, T; Schmitteckert, S; Volz, J; Martinez, C; Roth, R; Thumberger, T; Eckstein, V; Scheuerer, J; Thoni, C; Lasitschka, F; Carstensen, L; Gunther, P; Holland-Cunz, S; Hofstra, R; Brosens, E; Rosenfeld, JA; Schaaf, CP; Schriemer, D; Ceccherini, I; Rusmini, M; Tilghman, J; Luzon-Toro, B; Torroglosa, A; Borrego, S; Tang, CSM; Garcia-Barcelo, M; Tam, P; Paramasivam, N; Bewerunge-Hudler, M; De La Torre, C; Gretz, N; Rappold, GA; Romero, P; Niesler, B
A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease
PLOS GENETICS
Torroglosa, A; Villalba-Benito, L; Fernandez, RM; Luzon-Toro, B; Moya-Jimenez, MJ; Antinolo, G; Borrego, S
Identification of New Potential LncRNA Biomarkers in Hirschsprung Disease
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Villalba-Benito, L; Torroglosa, A; Luzon-Toro, B; Fernandez, RM; Moya-Jimenez, MJ; Antinolo, G; Borrego, S
ChIP-Seq-Based Approach in Mouse Enteric Precursor Cells Reveals New Potential Genes with a Role in Enteric Nervous System Development and Hirschsprung Disease
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Martin-Sanchez, M; Bravo-Gil, N; Gonzalez-del Pozo, M; Mendez-Vidal, C; Fernandez-Suarez, E; Rodriguez-de la Rua, E; Borrego, S; Antinolo, G
A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Luzón-Toro B, Fernández RM, Villalba-Benito L, Torroglosa A, Antiñolo G, Borrego S
Influencers on Thyroid Cancer Onset: Molecular Genetic Basis.
Genes (Basel).
Luzón-Toro B, Fernández RM, Martos-Martínez JM, Rubio-Manzanares-Dorado M, Antiñolo G, Borrego S
LncRNA LUCAT1 as a novel prognostic biomarker for patients with papillary thyroid cancer.
Sci Rep.
Torroglosa A, Villalba-Benito L, Luzón-Toro B, Fernández RM, Antiñolo G, Borrego S
Epigenetic Mechanisms in Hirschsprung Disease.
Int J Mol Sci.
Berta Luzón Toro; Raquel María Fernández; Ana Torroglosa; Leticia Villalba Benito; Guillermo Antiñolo; Salud Borrego
What are Telling us Genetics, Epigenetics and Environment of an Individual with Thyroid Cancer?.
Annals Thyroid Res.
Luzón-Toro Berta, Fernández Raquel M, Martos-Martínez Juan Manuel, Antiñolo Guillermo, Borrego Salud
Identification of new long non-coding RNAs associated with Medullary Thyroid Cancer
Oral Health and Care.
Bravo-Gil N, Marcos I, González-Meneses A, Antiñolo G, Borrego S
Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome: A case report.
Medicine (Baltimore).
Calucho M, Bernal S, Alías L, March F, Venceslá A, Rodríguez-Álvarez FJ, Aller E, Fernández RM, Borrego S, Millán JM, Hernández-Chico C, Cuscó I, Fuentes-Prior P, Tizzano EF.
Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases.
NeuromusculDisord
González-Del Pozo M, Martín-Sánchez M, Bravo-Gil N, Méndez-Vidal C, Chimenea Á, Rodríguez-de la Rúa E, Borrego S, Antiñolo G.
Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing
Sci Rep.
